Canonical Allele Identifier: CA2695208508

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2735082
• ClinVar RCV Id: RCV003508840

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592225_117592228dup , CM000669.2:g.117592225_117592228dup	GRCh38
NC_000007.13:g.117232279_117232282dup , CM000669.1:g.117232279_117232282dup	GRCh37
NC_000007.12:g.117019515_117019518dup	NCBI36
NG_016465.4:g.131442_131445dup , LRG_663:g.131442_131445dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2058_2061dup	ENSP00000497673.2:p.Lys688PhefsTer2
ENST00000647978.2:c.*1772_*1775dup	ENSP00000497658.1:n.*1772_*1775dup
ENST00000649781.2:c.1875_1878dup	ENSP00000497203.1:p.Lys627PhefsTer2
ENST00000685018.2:c.2058_2061dup	ENSP00000510194.2:p.Lys688PhefsTer2
ENST00000687278.2:c.2058_2061dup	ENSP00000509593.2:p.Lys688PhefsTer2
ENST00000699585.1:c.2058_2061dup	ENSP00000514456.1:p.Lys688PhefsTer2
ENST00000699598.1:c.2058_2061dup	ENSP00000514467.1:p.Lys688PhefsTer2
ENST00000699599.1:c.2058_2061dup	ENSP00000514468.1:p.Lys688PhefsTer2
ENST00000699600.1:c.2058_2061dup	ENSP00000514469.1:p.Lys688PhefsTer2
ENST00000699601.1:c.*358_*361dup	ENSP00000514470.1:n.*358_*361dup
ENST00000699602.1:c.2058_2061dup	ENSP00000514471.1:p.Lys688PhefsTer2
ENST00000699604.1:c.*1882_*1885dup	ENSP00000514472.1:n.*1882_*1885dup
ENST00000699605.1:c.1632_1635dup	ENSP00000514473.1:p.Lys546PhefsTer2
ENST00000003084.11:c.2058_2061dup MANE Select	ENSP00000003084.6:p.Lys688PhefsTer2
ENST00000647978.1:c.*1772_*1775dup	ENSP00000497658.1:n.*1772_*1775dup
ENST00000648260.1:c.1402-10601_1402-10598dup	ENSP00000497957.1:n.1402-10601_1402-10598...
ENST00000649406.1:c.1875_1878dup	ENSP00000497965.1:p.Lys627PhefsTer2
ENST00000649781.1:c.1875_1878dup	ENSP00000497203.1:p.Lys627PhefsTer2
ENST00000003084.10:c.2058_2061dup	ENSP00000003084.6:p.Lys688PhefsTer2
ENST00000426809.5:c.1968_1971dup	ENSP00000389119.1:p.Lys658PhefsTer2
NM_000492.3:c.2058_2061dup , LRG_663t1:c.2058_2061dup	NP_000483.3:p.Lys688PhefsTer2
XM_011515751.1:c.2148_2151dup	XP_011514053.1:p.Lys718PhefsTer2
XM_011515752.1:c.2148_2151dup	XP_011514054.1:p.Lys718PhefsTer2
XM_011515753.1:c.1815_1818dup	XP_011514055.1:p.Lys607PhefsTer2
XM_011515754.1:c.1815_1818dup	XP_011514056.1:p.Lys607PhefsTer2
NM_000492.4:c.2058_2061dup MANE Select	NP_000483.3:p.Lys688PhefsTer2